Abstracts tagged "Functional Genomics"

Abstract Number: 1928 • 2019 ACR/ARP Annual Meeting
Identification of Immunological Processes Associated with the Response to Abatacept in Rheumatoid Arthritis Using Longitudinal Blood RNA-seq Analysis
Antonio Julià¹, Maria Lopez Lasanta ², Antonio Gómez ³, Irene Bonafonte ⁴, Raimon Sanmartí ⁵, Carlos Marras ⁶, José Manuel Pina ⁷, Susana Romero-Yuste ⁸, Raul Veiga ⁹, Pilar Navarro ⁹, Carmen Moragues Pastor ¹⁰, Silvia Martínez ¹¹, Francisco J. De Toro ¹², Amalia Sanchez ¹³, Dacia Cerdà ¹⁴, Alejandro Prada ¹⁵, Alba Erra ¹⁶, Jordi Monfort ¹⁷, A. Urruticoechea-Arana ¹⁸, Núria Palau ¹⁹, Raquel Lastra ²⁰, Raúl Tortosa ³, Andrea Pluma ²¹ and Sara Marsal ²², ¹Rheumatology Research Group, Vall d’Hebron Hospital Research Institute, Barcelona, Spain., Barcelona, Catalonia, Spain, ²Hospital Universitari Vall Hebrón, Barcelona, Barcelona, Catalonia, Spain, ³Hospital Vall d'Hebron, Barcelona, Barcelona, Spain, ⁴Vall Hebron Hospital Research Institute, Barcelona, Spain, ⁵Hospital Clínic, Barcelona, Barcelona, Spain, ⁶Hospital Universitario Virgen de la Arrixaca, Murcia, Murcia, Spain, ⁷Hospital de Barbastro, Huesca, Barbastro, Huesca, Spain, ⁸Complejo Hospitalario Universitario Pontevedra, Pontevedra, Galicia, Spain, ⁹Hospital Universitario Fuenlabrada, Fuenlabrada, Spain, ¹⁰Platò Hospital, Barcelona, Spain, Barcelona, Spain, ¹¹Hospital Universitari Mútua Terrassa, Terrassa, Spain, ¹²University Hospital A Coruña, A Coruña, Spain, ¹³Hospital Universitario Lucus Augusti, Lugo, Lugo, Spain, ¹⁴Hospital Moisès Broggi, Sant Joan Despí, Sant Joan Despí, Spain, ¹⁵Hospital Universitario Torrejón de Ardoz, Torrejón de Ardoz, Spain, ¹⁶Hospital Sant Rafael, Barcelona, Barcelona, Spain, ¹⁷Hospital del Mar, Barcelona, Spain, ¹⁸HU Can Misses, Ibiza, Spain, ¹⁹Hospital Vall Hebrón Barcelona, Barcelona, Spain, ²⁰Hospital Vall Hebron, Barcelona, Barcelona, Spain, ²¹Hospital Universitari Vall d'Hebron, Barcelona, Spain, ²²Vall d’Hebron Hospital, Barcelona, Catalonia, Spain
Background/Purpose: Abatacept (CTLA4-Ig) is an approved biological therapy for the treatment of rheumatoid arthritis (RA). Similar to other biological agents, most patients (50-60%) respond significantly…
Abstract Number: 2429 • 2017 ACR/ARHP Annual Meeting
Towards Precision Medicine in Rheumatoid Arthritis (RA): Trans-Ethnic Analysis and Prioritization of SNPs in the AFF3 Locus
Vincent A. Laufer¹, Maria I. Danila², Richard J. Reynolds³, Leah C. Kottyan⁴, Kenneth Kaufman⁵, John B. Harley⁶, Carl D Langefeld⁷, Donna Arnett⁸ and S. Louis Bridges Jr.⁹, ¹Division of Clinical Rheumatology and Immunology, University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Birmingham, AL, ³Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁶Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Wake Forest University, Winston Salem, NC, ⁸University of Kentucky College of Public Health, Lexington, KY, ⁹Clinical Immunology & Rheum, Univ of Alabama, Birmingham, AL
Background/Purpose: Genetic variants in AFF3 have been associated with RA, including in our GWAS and ImmunoChip analyses of African-Americans (610 RA; 1543 controls). Likewise, an…
Abstract Number: 2636 • 2017 ACR/ARHP Annual Meeting
EZH2 Modulates the DNA Methylome and Controls T Cell Adhesion through Junctional Adhesion Molecule-a in Lupus Patients
Pei-Suen Tsou¹, Patrick Coit¹, Nathan Kilian² and Amr H Sawalha¹, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Rheumatology, University of Michigan, Ann Arbor, MI
Background/Purpose: EZH2 is an epigenetic regulator that trimethylates lysine 27 of histone 3 (H3K27me3) and modulates DNA methylation patterns. We have previously suggested that EZH2…
Abstract Number: 2931 • 2017 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Guoshuai Cai², Diana Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁸, John Clarke⁹, Francesco Boin¹⁰, Paul Wolters¹¹, Lorinda Chung¹² and Michael L. Whitfield¹, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Stanford University School of Medicine, Stanford, CA, ⁷Department of Dermatology, Stanford University School of Medicine, Palo Alto, CA, ⁸Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ⁹Medicine/Gastroenterology, Stanford University, Stanford, CA, ¹⁰Rheumatology, University California, San Francisco, San Francisco, CA, ¹¹Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹²Rheumatology, Stanford University Medical Center, Palo Alto, CA
Background/Purpose: While skin fibrosis is a hallmark of systemic sclerosis (SSc), internal organ involvement is the primary cause of morbidity and mortality, often related to…
Abstract Number: 1014 • 2017 ACR/ARHP Annual Meeting
The Rheumatic Disease Data Refinery: A Case Study in Integrative Genomics Reveals Complex IFN Signatures in Therapeutic Studies in SLE
Jaclyn N Taroni and Casey S. Greene, Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA
Background/Purpose: Over the past 15 years, more than 10,000 whole tissue biopsies from patients with rheumatic diseases have been deposited into publicly available gene expression…
Abstract Number: 70 • 2016 ACR/ARHP Annual Meeting
Identifying Distal Interactions Between RUNX1 and JIA Associated Single Nucleotide Polymorphisms By Chromosome Conformation Capture
Christopher Taylor¹, Anne Hinks², Amanda McGovern¹, Helen Ray-Jones³, Kate Duffus¹, Annie Yarwood⁴, Gisela Orozco⁵, Paul Martin⁶, Wendy Thomson⁷ and Stephen Eyre⁸, ¹Centre for Musculoskeletal Research, University of Manchester, Manchester, United Kingdom, ²ARC Epidemiology Unit, University of Manchester, Manchester, United Kingdom, ³Centre for Musculoskeletal Research, University of MAnchester, Manchester, United Kingdom, ⁴Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, Institute of Inflammation and repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ⁵Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ⁶Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ⁷Arthritis Research UK Centre for Genetics and Genomics,The University of Manchester, Manchester, United Kingdom, ⁸The University of Manchester, Manchester, United Kingdom
Background/Purpose: 17 genetic loci have now been identified to confer susceptibility to JIA; several of these loci harbour genes involved in the IL2 pathway suggesting…
Abstract Number: 76 • 2016 ACR/ARHP Annual Meeting
Chromatin Interactions Reveal Novel Gene Targets for Drug Repositioning in Rheumatic Diseases
Paul Martin¹, Amanda McGovern¹, Kate Duffus¹, Annie Yarwood¹, Anne Barton^2,3, Jane Worthington^1,2, Stephen Eyre¹ and Gisela Orozco³, ¹Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ²NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom, ³Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom
Background/Purpose: The treatment of rheumatic diseases can be both expensive and ineffective with up to 1/3 of patient’s failing to respond to current treatments. There…
Abstract Number: 2843 • 2014 ACR/ARHP Annual Meeting
SLE Patients Carrying a Disease-Associated PTPN22 R620W Variant Show Reduced Interferon-Inducing Capacity
Yaya Wang¹, David Ewart², Ami Yamamoto², Emily C. Baechler¹, Parastoo Fazeli³ and Erik J. Peterson², ¹Medicine, University of Minnesota, Minneapolis, MN, ²University of Minnesota, Minneapolis, MN, ³Division of Rheumatic and Autoimmune Diseases, University of Minnesota, Minneapolis, MN
Background/Purpose Type 1 interferons (IFN) are implicated in the pathogenesis of systemic lupus erythematosus (SLE). Increased expression of IFN-regulated genes, termed the IFN-signature, correlates with…
Abstract Number: 2454 • 2014 ACR/ARHP Annual Meeting
Genetic Influences on Rheumatoid Arthritis in African-Americans
Vincent A. Laufer^1,2, Richard J. Reynolds³, Maria I. Danila⁴, Gordon Wu⁵, Amit Patki⁵, Devin Absher⁶, Carl D. Langefeld⁷, R. Curtis Hendrickson⁸, Elliot J. Lefkowitz⁹, Ted R. Mikuls¹⁰, Peter K. Gregersen¹¹, Elizabeth E. Brown⁸, Robert P. Kimberly⁸, John B. Harley¹², Donna K. Arnett⁸, Hemant K. Tiwari⁵ and S. Louis Bridges Jr.^8,13, ¹Division of Clinical Rheumatology and Immunology, University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham Medical Scientist Training Program, Birmingham, AL, ³Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁴Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁵Biostatistics, University of Alabama at Birmingham, Birmingham, AL, ⁶Hudson Alpha Institute for Biotechnology, Huntsville, AL, ⁷Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁸University of Alabama at Birmingham, Birmingham, AL, ⁹Microbiology, University of Alabama at Birmingham, Birmingham, AL, ¹⁰Veteran Affairs Nebraska Western Iowa Health Care System and University of Nebraska Medical Center, Omaha, NE, ¹¹Genomics and Human Genetics, Feinstein Institute Medical Research and North Shore-Long Island Jewish Health System, Manhasset, NY, ¹²Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹³Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Rheumatoid arthritis (RA) affects 0.5-1% of the population worldwide. The genetics of RA has been analyzed in large European and Asian studies, but much…
Abstract Number: 869 • 2014 ACR/ARHP Annual Meeting
UBE2L3 genotype Influences Plasma Cell Proliferation in Systemic Lupus Erythematosus By Regulation of NF-κB By the Linear Ubiquitination Assembly Complex
Myles J. Lewis¹, Simon Vyse¹, Adrian M. Shields², Sebastian Boeltz², Patrick Gordon³, Timothy D. Spector⁴, Paul J. Lehner⁵, Henning Walczak⁶ and Timothy J. Vyse², ¹Experimental Medicine & Rheumatology, Queen Mary University of London, London, United Kingdom, ²Medical & Molecular Genetics, King's College London, London, United Kingdom, ³Department of Rheumatology, King's College London, London, United Kingdom, ⁴Department of Twin Research, King's College London, London, United Kingdom, ⁵Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom, ⁶Centre for Cell Death, Cancer and Inflammation, University College London, London, United Kingdom
Background/Purpose: Genome-wide association studies have identified a strong association between a single risk haplotype of the UBE2L3gene and Systemic Lupus Erythematosus (SLE), as well as…
Abstract Number: 2494 • 2013 ACR/ARHP Annual Meeting
Ankylosing Spondylitis Associated Endoplasmic Reticulum Aminopaptidase 1 Variants In Antigen Presentaing Cells Affect HLA-B27 Free Heavy Chain Expression and Binding To NK-Cell Receptors
Nigil Haroon^1,2,3 and Zhenbo Zhang³, ¹Rheumatology, University Health Network, Toronto, ON, Canada, ²Medicine, Rheumatology, University of Toronto, Toronto, ON, Canada, ³Toronto Western Research Institute, Toronto, ON, Canada
Background/Purpose: ERAP1 and HLA-B27 are strongly associated with ankylosing spondylitis (AS). Using well-controlled tissue culture systems, we studied the effects of AS-associated ERAP1 variants on…
Abstract Number: 538 • 2013 ACR/ARHP Annual Meeting
Ankylosing Spondylitis Associated Endoplasmic Reticulum Aminopeptidase 1 Variants Alter The Unfolded Protein Response
Nigil Haroon^1,2,3 and Zhenbo Zhang³, ¹Rheumatology, University Health Network, Toronto, ON, Canada, ²Medicine, Rheumatology, University of Toronto, Toronto, ON, Canada, ³Toronto Western Research Institute, Toronto, ON, Canada
Background/Purpose: Endoplasmic reticulum aminopeptidase 1 (ERAP1) has recently been identified to be strongly associated with HLA-B27 positive AS. We have shown that ERAP1 variants cause…

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